MUTATION		Codons 84/85 (+C); ACC·TTT(Thr·Phe)->ACC·C·TTT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of a C between codons 84 and 85 prematurely terminates translation because codon 90 is a stop codon (TGA)
IDENTIFICATION		Not reported
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in 11 members of three Japanese families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 1997.

---

This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without permission in writing from the Author.